GGDonto/Entry

GGDonto: Genetic Glyco-Diseases Ontology

CON00039 : 'Morquio syndrome A' (Integration tree) (Degradation tree)

Common disease names

Galactosamine-6-sulphatase deficiency
MPS IVA
Morquio's syndrome, classic form
Mucopolysaccharidosis type IVA

Full list of disease names

Preferred Term	MUCOPOLYSACCHARIDOSIS TYPE IVA
Synonyms (from OMIM and MeSH)	GALACTOSAMINE-6-SULFATASE DEFICIENCY GALNS DEFICIENCY MORQUIO A DISEASE MORQUIO SYNDROME A MPS IVA MPS4A Morquio's syndrome, classic form Mucopolysaccharidosis type 4A

UMLS CUI

C0086651

UMLS SAB

MeSH

UMLS CODE

D009085

OMIM DATA

Gene	GALNS
Gene Number	612222
Phenotype Number	253000

References

Concept

Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses.
Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.

Relations

Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R (2011) Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 34(6):1183-1197.
Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54.

GDGDB

(90)